Description

A rare familial disease of the central nervous system with insidious onset usually between 30 and 45 years of age. The patient has progressive dementia with grimacing, gesticulation, ataxic movements, finger twitching, dysarthria, speech disorders and other bizarre involuntary movements characteristic of chorea in early stages, as well as depression and general mental deterioration. Patient may be mistaken for drunk. The posture is abnormal. Muscle movements become very violent and finally in later stage decrease to akinesia. The disease slowly progresses, and death often takes place within 10 years of onset, usually due to an intercurrent infection. Occurs in two forms, the classic choreic form and the rigid form. Inheritance is autosomal dominant. Many women will have had children prior to developing the disease, and the chance of a child being affected is 50 percent. The gene causing the disease has now been isolated.

The disease was first described by the Norwegian physician Johan Christian Lund in 1860 based on cases in Setesdal, a then rather isolated valley in South-Western Norway. In Norway the disease is known as setesdalsrykkja or rykkja.

Mount’s syndrome/Mount-Reaback syndrome, or familial paroxysmal choreoathtetosis, is a separate entity entered under Lester Adrian Mount, American physician, born 1910.

Chorea minor, or infectious chorea, has been entered as Sydenham's chorea, under Thomas Sydenham, English physician, 1624-1689.

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